Evidence map›Paper›PMID 37409680›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2023

A simulative deep learning model of SNP interactions on chromosome 19 for predicting Alzheimer's disease risk and rates of disease progression.

Jinhyeong Bae, Paige E Logan, Dominic J Acri, Apoorva Bharthur, Kwangsik Nho, Andrew J Saykin, Shannon L Risacher, Kelly Nudelman, Angelina J Polsinelli, Valentin Pentchev and 4 more

Open access · hybridAbstract read
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.8field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. A survey on deep learning for polygenic risk scores.Briefings in bioinformatics · 2025
    Review
  3. Review
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 3 institutions in 1 country.

Jinhyeong BaeDepartment of Neurology, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Paige E LoganDepartment of Neurology, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Dominic J AcriDepartment of Medical and Molecular Genetics, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Apoorva BharthurDepartment of Neurology, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Kwangsik NhoDepartment of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Andrew J SaykinDepartment of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Shannon L RisacherDepartment of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Kelly NudelmanDepartment of Medical and Molecular Genetics, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Angelina J PolsinelliDepartment of Neurology, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Valentin PentchevDepartment of Information Technology, Indiana University Network Science Institute, Bloomington, Indiana, USA.
Jungsu KimDepartment of Medical and Molecular Genetics, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Dustin B HammersDepartment of Neurology, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Liana G ApostolovaDepartment of Neurology, School of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Alzheimer's Disease Neuroimaging Initiative
Indiana University School of MedicineAlzheimer’s Disease Neuroimaging Initiative · USValve (United States) · US

Funding

Project 1U19AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI Duygu Tosun-Turgut · 2016 to 2026
$226.7M
Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
Early Onset AD Consortium - the LEAD Study (LEADS)U01AG057195 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI APOSTOLOVA, LIANA G, CARRILLO, MARIA C · 2018 to 2023
$70.3M
The Neighborhoods Study: Contextual Disadvantage and Alzheimer’s Disease and Related Dementias (ADRD)R01AG070883 · NIA · UNIVERSITY OF WISCONSIN-MADISON · PI AMY J. KIND · 2021 to 2026
$42.1M
Research Education ComponentP30AG010133 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI GHETTI, BERNARDINO FRANCESCO · 1991 to 2020
$37.3M
Research Education ComponentP30AG072976 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI ANDREW J SAYKIN · 2021 to 2026
$24.1M
YALE CENTER FOR THE: LEARNING &ATTENTIONP41RR013642 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SMALL, GARY WILLIAM · 1998 to 2011
$21.9M
Ultrascale Machine Learning to Empower Discovery in Alzheimers Disease BiobanksU01AG068057 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Christos Davatzikos, Heng Huang · 2020 to 2026
$20.7M
NINDS Biomarker RepositoryU24NS095871 · NINDS · INDIANA UNIVERSITY INDIANAPOLIS · PI TATIANA M. FOROUD · 2015 to 2026
$18.3M
KBASE2: Korean Brain Aging Study, Longitudinal Endophenotypes and Systems BiologyU01AG072177 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI LEE, DONG YOUNG, NHO, KWANGSIK TIMOTHY · 2021 to 2025
$11.2M
Early Onset Alzheimer's Disease ConsortiumR56AG057195 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI APOSTOLOVA, LIANA G, CARRILLO, MARIA C · 2017 to 2017
$7.7M
NCRR NIH HHS P41 RR013642NIAID NIH HHS R01 AI054546NIA NIH HHS K23 AG062555NIA NIH HHS P30 AG010133NIA NIH HHS P30 AG072976NIA NIH HHS R01 AG019771NIA NIH HHS R01 AG037639NIA NIH HHS R01 AG040770NIA NIH HHS R01 AG057739NIA NIH HHS R01 AG058854NIA NIH HHS R01 AG061788NIA NIH HHS R01 AG068193NIA NIH HHS R01 AG070883NIA NIH HHS R01 AG070931NIA NIH HHS R21 AG072101NIA NIH HHS R37 AG057739NIA NIH HHS R42 AG069629NIA NIH HHS R56 AG057195NIA NIH HHS R61 AG066543NIA NIH HHS T32 AG071444NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG057195NIA NIH HHS U01 AG068057NIA NIH HHS U01 AG072177NIA NIH HHS U19 AG024904NIA NIH HHS U24 AG021886NIEHS NIH HHS R01 ES031401NIH HHS U01 AG057195NINDS NIH HHS RF1 NS128961NINDS NIH HHS U24 NS095871NINR NIH HHS R01 NR018162NLM NIH HHS R01 LM012535NLM NIH HHS R01 LM013463
6 · The paper itself

Abstract

backgroundIdentifying genetic patterns that contribute to Alzheimer's disease (AD) is important not only for pre-symptomatic risk assessment but also for building personalized therapeutic strategies.

methodsWe implemented a novel simulative deep learning model to chromosome 19 genetic data from the Alzheimer's Disease Neuroimaging Initiative and the Imaging and Genetic Biomarkers of Alzheimer's Disease datasets. The model quantified the contribution of each single nucleotide polymorphism (SNP) and their epistatic impact on the likelihood of AD using the occlusion method. The top 35 AD-risk SNPs in chromosome 19 were identified, and their ability to predict the rate of AD progression was analyzed.

resultsRs561311966 (APOC1) and rs2229918 (ERCC1/CD3EAP) were recognized as the most powerful factors influencing AD risk. The top 35 chromosome 19 AD-risk SNPs were significant predictors of AD progression. DISCUSSION: The model successfully estimated the contribution of AD-risk SNPs that account for AD progression at the individual level. This can help in building preventive precision medicine.

Indexed as

Alzheimer DiseaseDeep LearningChromosomes, Human, Pair 19Disease ProgressionHumansMagnetic Resonance ImagingNeuroimagingPolymorphism, Single NucleotideAlzheimer's diseasedeep learninggenetics

Identifiers

PMID37409680
PMCPMC10770299
OpenAlexW4383302036

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.